Agenesis of the trachea: Phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients

Felix, Janine F.; Looij, Marjolein A.J. van; Pruijsten, R.V.; Krijger, Ronald R. de; Klein, Annelies de; Tibboel, Dick; Hoeve, Hans

doi:10.1016/j.ijporl.2005.07.009

Cited by 24 publications

(20 citation statements)

References 25 publications

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“…This is the first reported case, to our knowledge, of a successful salvage at birth of a baby with CHAOS due to complete tracheal agenesis. Until presently, tracheal agenesis has not been prenatally diagnosed, which has prevented the option for the EXIT strategy [4][5][6] . However, this case demonstrates that if the correct diagnosis can be made and the pregnant mother can be transferred to an institution with appropriate experience, EXIT offers the potential for salvage of these babies [7][8][9] .…”

Section: Discussionmentioning

confidence: 99%

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Congenital High Airway Obstruction Syndrome due to Complete Tracheal Agenesis: An Accident of Nature with Clues for Tracheal Development and Lessons in Management

Vaikunth¹,

Morris²,

Polzin

et al. 2009

Fetal Diagn Ther

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Congenital high airway obstruction syndrome (CHAOS) is a life-threatening condition characterized by complete blockage of the fetal airways associated with hydrops. We present a case of CHAOS due to the rare cause of complete tracheal agenesis. The ex utero intrapartum therapy (EXIT) strategy was employed to allow for neck and mediastinal exploration. Thymectomy allowed dissection to the level of the carina demonstrating the confluence of dilated mainstem bronchi but no trachea and no connection to the esophagus. A 2.5 endotracheal tube was inserted into the right mainstem bronchus and secured to the left clavicle. At 3 months of age, the infant succumbed to sepsis from Enterobacter mediastinitis due to friction between the tracheostomy tube and the nasogastric tube resulting in erosion of the esophagus. Complete tracheal agenesis, as seen in this case, is consistent with the failure of normal tracheal elongation as suggested by newer theories of foregut development. This case illustrates the most severe form of tracheal atresia causing CHAOS ever salvaged by the EXIT procedure at birth. The subsequent postnatal course highlights the need for early tracheal replacement in this particularly challenging form of CHAOS.

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Section: Discussionmentioning

confidence: 99%

“…Ninety-four percent of the reported cases of tracheal agenesis have an associated tracheoesophageal fistula that would decompress into the tracheobronchial tree and prevent the development of CHAOS [4] . Infants with this condition survive the initial few hours of life by ventilating through a bronchoesophageal fistula [6,12] .…”

Section: Discussionmentioning

confidence: 99%

Congenital High Airway Obstruction Syndrome due to Complete Tracheal Agenesis: An Accident of Nature with Clues for Tracheal Development and Lessons in Management

Vaikunth¹,

Morris²,

Polzin

et al. 2009

Fetal Diagn Ther

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“…The presence of trachea or bronchoesophageal fistula is a factor that provides adequate oxygenation and possibility of life in the early period, however, most neonates with tracheal agenesis die within hours or early days of birth owing to difficulties in diagnosis and treatment (2).…”

Section: Introductionmentioning

confidence: 99%

Management of Tracheal Agenesis with Esophageal Intubation Can Save Lives: A Reminder for Anaesthesiologist and Neonatologist

Caliskan

2018

J Compr Ped

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Introduction: Tracheal agenesis (TA) is a rare congenital anomaly presenting at birth with respiratory distress and difficult airway management. Polyhydramnios and premature labor are often pathologies associated with these pregnancies, which makes patient management more difficult. TA is often associated with other organ system anomalies (such as cardiovascular, renal and limb anomalies). Hereby, we report a case of tracheal agenesis who is presenting to our pediatric surgery and anesthesiology clinics. Case Presentation: An 30 weeks' premature infant was transferred to our neonatal intensive care unit, with the diagnosis of tracheal agenesis. He had failed attempts at intubations because of failing to visualize the vocal cords. It was learned that immediately, his respiratory tract was secured via cervical oesophagostomy using long tracheostomy cannula and the infant was subsequently stabilized by gently ventilated. The diagnosis was confirmed on CT scan. It was performed distal oesophageal banding at the upper gastroesophageal junction with gastrostomy. On postoperative day 12 in intensive care unit, the baby further got complicated with a developing cyanosis and circulatory insufficiency. Cardiorespiratory arrest was developed and the infant died after 40 minutes after resuscitation. Conclusions: Successful approach at tracheal agenesis depends on, either prenatal diagnosis or recognition of this situation immediately after birth. In recent years, long time survival has been reported in tracheal agenesis through various surgical approaches. Therefore, it should be remembered that early esophageal ventilation is a life-saving alternative.

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“…Since the first description in 1900 by Payne more than 150 cases have been published [2,8]. In 50-94% of cases it is associated with other congenital anomalies [12].…”

Section: Introductionmentioning

confidence: 99%

“…In 50-94% of cases it is associated with other congenital anomalies [12]. The incidence is approximately 1:50,000 with a male/female ratio of 2:1 [2,12]. In 52% of the reported cases the patients were premature infants.…”

Section: Introductionmentioning

confidence: 99%

Three new cases of congenital agenesis of the trachea

et al. 2006

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Congenital absence of the trachea is a rare anomaly that might confront the obstetrician or neonatologist with an unexpected emergency. These patients present with cyanosis, severe respiratory distress, insufficient gas exchange, absence of audible crying and difficult or impossible endotracheal intubation. In more than 90% it is associated with further congenital malformations. Adequate oxygenation depends on the existence of a tracheo- or bronchooesphageal fistula and the length of the proximal trachea. We present the cases of three neonates with tracheal agenesis with tracheooesophageal fistula. Two of the neonates died within the first hour of life because endotracheal intubation was impossible and oxygenation through an oesophageally placed tube was insufficient. The third infant could be oxygenated through a tracheooesophageal fistula. The ventilation was at least insufficient and no surgical intervention was made. The diagnosis of a congenital absence of the trachea usually is made after birth because of the clinical signs and the course within the first minutes of life. The only way that the diagnosis can be made prenatally is by magnetic resonance imaging (MRI). The knowledge of this clinical picture helps to make decisions in an unexpected emergency in the immediate postpartum period and also in patients whose ventilation is very difficult right from the start.

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Agenesis of the trachea: Phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients

Cited by 24 publications

References 25 publications

Congenital High Airway Obstruction Syndrome due to Complete Tracheal Agenesis: An Accident of Nature with Clues for Tracheal Development and Lessons in Management

Congenital High Airway Obstruction Syndrome due to Complete Tracheal Agenesis: An Accident of Nature with Clues for Tracheal Development and Lessons in Management

Management of Tracheal Agenesis with Esophageal Intubation Can Save Lives: A Reminder for Anaesthesiologist and Neonatologist

Three new cases of congenital agenesis of the trachea

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